Product Details

SNP ID

rs58894014

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141331427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCATTTACTCAGGCACAATACC[A/C]TATAAATGTCCCCGAAAACGTGCCG

Phenotype

MIM: 606288 MIM: 606289

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PCDHGA1 PubMed Links

Gene Details

Gene

PCDHGA1

Gene Name

protocadherin gamma subfamily A, 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018912.2	743	Missense Mutation	CAT,CCT	H248P	NP_061735.1
NM_031993.1	743	Missense Mutation	CAT,CCT	H248P	NP_114382.1

Gene

PCDHGA2

Gene Name

protocadherin gamma subfamily A, 2

There are no transcripts associated with this gene.

View Full Product Details